ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) (rs148504065)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152597 SCV000201886 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala2308Ala in Exon 36 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (3/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148504065).
Invitae RCV000918543 SCV001063856 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152597 SCV001157184 benign not specified 2019-03-12 criteria provided, single submitter clinical testing

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